This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: SLC12A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000456149.1:p.[Ile189del;Ala191_Ile192delinsGlnPro;Thr194_Lys199delinsProProMetAlaArgSer;Gly201_Ile207delinsGlnValAlaProThrSerSer;Arg209_Gly216delinsProGlyValTrpAlaGlnSerLeu;Ser218Ala]
CA8069101
ENST00000563236.5:c.564del